G7G (p.Gly7Gly) variant of SMN1 (Survival motor neuron protein)
G7G (p.Gly7Gly) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G7G (p.Gly7Gly) variant details
- p.Gly7Gly
- rs1774433372
- gnomAD 5-70049706-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.47
- Population evidence available
- Structural context available
- Literature evidence available